title: Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?
abstract: A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and contrasted with the Kearns-Sayre syndrome. It is concluded that mitochondrial myopathy, myoclonic epilepsy and ataxia may be distinguishing features of a specific familial disease, which on presentation may mimic the Ramsay-Hung syndrome.
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications; D006801:Humans; D007031:Hypothalamus / Q000503:physiopathology; D007247:Infertility, Female / Q000150:complications; D007773:Lactates / Q000097:blood; D008931:Mitochondria, Muscle / Q000473:pathology*; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D007773:Lactates